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The Breast Cancer Gene - Are You At Risk?

BRCA1 and BRCA2 are tumor suppressor
genes. Mutations in either of these two
genes have been linked to an increased
risk of breast and ovarian cancer.

The BRCA gene (often known as "the breast cancer gene") has been in
the news a lot lately, since Angelina Jolie revealed in her New York
Times op-ed that she has a BRCA1 gene mutation and had undergone a
double mastectomy.

So how do you know if you should get tested?

There are several established criteria for BRCA genetic testing, as well
as a few key warning signs that should prompt a genetic counseling
evaluation.

“BRCA1 and BRCA2 are tumor suppressor genes. Mutations in either
of these two genes have been linked to an increased risk of breast and
ovarian cancer,” says Laura Rebek, Oncology Genetics Risk Counselor at
Columbia St. Mary's. “Women in the general population have about a 12
percent lifetime risk for breast cancer – that risk jumps to as high as
80 percent with the BRCA mutation. For ovarian cancer, the risk jumps
from 1.4 percent to upwards of 40 percent.”

But it’s not just women – men with these mutations have an
increased risk of breast cancer (yes, men can get breast cancer), as
well as pancreatic and early-onset prostate cancer.

Women of Ashkenazi Jewish descent (those who hail from central or
eastern Europe) carry the BRCA1 or 2 mutations in far greater frequency
than the rest of the population. After that, the primary red flag is
personal and/or family history. If you are of Ashkenazi Jewish descent,
and if you have a personal history of breast or ovarian cancer, a
first-degree relative (mother or sibling) or two second-degree relatives
(grandparent or aunt) who have been diagnosed with breast or ovarian
cancer, you should strongly consider getting tested.

For those not of Ashkenazi Jewish descent, a worrisome family history
would be a personal history of breast cancer diagnosed under age 50 or
ovarian cancer at any age, two first-degree relatives under the age of
50, or three or more first- or second-degree relatives of any age
diagnosed with breast cancer, and any male breast cancer or ovarian
cancer in a close relative.

A genetics counselor can help you decide if you should get tested.

The test itself is simple enough – all it takes is a blood sample – and
results usually take a few weeks to come back. However, the test
can be expensive, so people considering getting tested should check to
make sure their insurance will cover it. Most do.

To schedule a mammogram at one of
our Breast Health Centers, click HERE.

So what should you do if the test comes back positive?

There are several options available to help manage your risk. The first
and most important step is surveillance – for breast cancer, that means
yearly mammograms, breast MRIs, and monthly self-exams beginning by age
25. Screening for ovarian cancer includes transvaginal ultrasounds and
blood tests. Unfortunately, ovarian cancer screening is not consistently
reliable in detecting ovarian cancer early.

While these screenings won’t actually reduce your cancer risk, regular
screenings are essential. The earlier cancer is detected, the better
chance you have of treating it successfully.

“Another option is surgery – the removal of your breasts (a bilateral
mastectomy, which is what Jolie recently had done) significantly reduces
breast cancer risk,” says Rebek. “Women who are BRCA-positive are
recommended to have their fallopian tubes and ovaries removed (a
salpingo-oophorectomy) between ages 35 and 40, or once childbearing is
completed.”

While these surgeries drastically reduce one’s risk of developing
cancer, they do not entirely eliminate it. So even if you have
surgery, you should still receive regular screenings.

There are also medications that have been shown to reduce the risk of
breast cancer in those with the BRCA1 or 2 mutations – but clinical
testing is still limited. Of course, any decision to start a course of
medication should be made in consultation with your doctor or a medical
oncologist.

When it comes to cancer, knowledge is power. Knowing your risk and
taking appropriate preventative action offers the best hope one has to
successfully battle a potential cancer diagnosis.

Having a BRCA mutation is not a death sentence; it’s an
opportunity to take control of your health.

Columbia St. Mary’s treats more breast cancer patients than any other
area hospital. We're a destination of choice throughout southeastern
Wisconsin because women of all ages facing a breast cancer diagnosis
know that at Columbia St. Mary’s, they will get the most specialized
diagnostic approaches, state-of-the-art treatment options, a care plan
that is easy to navigate, and a team of compassionate caregivers who
treat every part of their health – their body, mind and spirit.

You can help CSM’s team of breast health experts care for the women of
our community with a gift to our Breast Health Program. Your gift will
fund the most advanced medical equipment and amenities that create the
caring and comforting environment of the Van Dyke Habler Center for
Women’s Imaging.